Answer to MMM #183

Nice job NG, Meg and LG! The answer to yesterday’s mystery is ALS – amyotrophic lateral sclerosis. ALS has been getting a lot of publicity recently after the #icebucketchallenge went viral (more on that in a bit), but in speaking with some friends this weekend I realized that a lot of us (myself included) don’t have a great understanding of what the disease actually is. So here’s a crash course for your Tuesday morning:

ALS is a progressive and fatal neurodegenerative disease – 50% of patients die within 30 months of symptom onset. To this date there is no known cure and current treatment options are mainly targeted towards symptom relief.

The basic pathophysiology of ALS is that there is destruction of both the upper and lower motor neurons in the cortex of the brain, brain stem and spinal cord. In more simple terms, you lose the ability to send messages from your brain to the different muscles of your body and eventually develop weakness and paralysis. Complications include respiratory compromise (you need muscles to breathe), difficulty swallowing, difficulty with speech, chronic pain and depression.

70% of patients present initially with symptoms in the limbs such as weakness, cramping, fasiculations (twitching), or difficulty walking due to spasticity. Tongue fasiculations are highly specific for ALS.

About 25% of patients will initially present with difficulty in speech or swallowing. This is called “bulbar onset”.

Patients also frequently present with concerns about fatigue and decreased exercise tolerance.

Because ALS has such a poor prognosis, a careful diagnostic work-up is warranted. This includes a thorough history and physical exam, significant for both upper and lower motor neuron symptoms or signs, EMG testing, and muscle or nerve biopsy.

So back to the ice buckets. Pete Frates, a fellow BC grad and former captain of the BC baseball team was recently diagnosed with ALS. This is his story.

[youtube http://www.youtube.com/watch?v=85VkgNt5OgI]

He challenged his friends via social media to either dump a bucket of ice water on their heads or make a $100 donation towards ALS research. The challenge went viral and it’s impossible to scroll through Facebook lately without seeing at least few of your friends cringe as they drench themselves with icy water. And as fun as the ice bucket challenge is, I think it’s important that we remember what it’s all about. I strongly encourage all of you to visit www.petefrates.com to learn more about ALS and make a donation to the Pete Frates fund. Or even better – take the challenge to spread the word AND make a donation. I’m always proud to be an Eagle, but this week especially. Pete story is truly inspiring and even in the face of such great adversity he embodies what it means to live as “men and women for others”.